| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127668162C>T | CA16042764 | STXBP1 | c.835C>T (p.His279Tyr) c.877C>T (p.His293Tyr) c.*519C>T (n.*519C>T) c.*1741C>T (n.*1741C>T) c.819C>T n.713C>T c.868C>T (p.His290Tyr) c.795-1736C>T (n.795-1736C>T) | ClinVar dbSNP |
| 9 | g.127668162C= | CA1879913625 | STXBP1 | c.835C= (p.His279=) c.877C= (p.His293=) c.*519C= (n.*519C=) c.*1741C= (n.*1741C=) c.819C= n.713C= c.868C= (p.His290=) c.795-1736C= (n.795-1736C=) | dbSNP |